Noah and Beery were diagnosed with cerebral palsy nearly 13 years ago. At the age of 5 yrs they were diagnosed as Dopa-responsive Dystonia (DRD). It is a complex movement disorder involving the loss of the neurotransmitter dopamine.

The muscles of people with dystonia contract and spasm involuntarily. The twins were given L-dopa, which substitutes for the neurotransmitter dopamine they lacked, and they responded quickly. But there were still some lingering symptoms.

6 years ago, Alexis developed a cough that became increasingly debilitation and a massive breathing problem developed.

As luck would have it that the twins’ father had recently taken a job as chief information officer for the Life Technologies, maker of gene sequencing machines.The genomes sequencing of the children were done. When the researchers analyzed raw DNA sequence data from the twins’ genome, they were surprised to find no mutations in the two genes commonly mutated in DRD. Instead the team discovered that the twins carried a mutated gene related to serotonin production that made them deficient in both dopamine and serotonin. Serotonin is another neurotransmitter.

The twins were given a serotonin-inducing supplement called 5-HTP to their Dopamine regimen and this improved their symptoms dramatically within a few weeks.Because of the genome sequencing, and Alexis taking this new amino acid, is able to run on tracks and has been winning races. Seeing them now one would say that there is nothing wrong with them!

The cost of this genome sequencing is not within reach of most of our population. At present it costs $ 10,000 to $ 20,000 per patient. But, companies such as Illumina, Life Technologies Corp and Roche Holding are working to bring down the cost. It is expected that the cost of genome sequencing is going to drop very fast in near future and it is hoped that in very near future the cost may come down within reach of very many patients.

E. coli was discovered by German pediatrician and bacteriologist Theodor Escherich in 1885.

It is a Gram-negative, rod shaped bacterium that is commonly found in the lower intestine of warm blooded organisms. These are typically rod-shaped, and are about 2.0 micrometres (μm) long and 0.5 μm in diameter.

Most E. coli strains are harmless, but some serotypes can cause serious food poisoning in humans. The harmless strains are part of the normal flora of the gut, and can benefit their hosts by producing vitamin K2, and by preventing the establishment of pathogenic bacteria within the intestine.The Cells of E.Coli are able to survive outside the body for a limited amount of time, and this is a reason for its use as a test or an indicator organisms to test environmental samples for fecal contamination.

E. coli normally colonizes an infant’s gastrointestinal tract within 40 hours of birth, arriving with food or water or with the individuals handling the child.

E.Coli is an important anaerobe of human gastrointestinal tract. Anaerobes are organisms that can grow in either the presence or absence of oxygen.Fecal-oral transmission is the major route through which pathogenic strains of the bacterium cause disease in humans.

Food poisoning caused by E. coli can result from eating unwashed vegetables or undercooked meat.

E.Coli Strain O157:H7 – is associated with serious and life-threatening complications such as hemolytic-uremic syndrome.This strain is associated with the 2006 United States E. coli outbreak due to fresh spinach.

If E. coli bacteria escape the intestinal tract through a perforation, for example from an ulcer, a ruptured appendix, or due to a surgical error, and enter the abdomen, may cause serious peritonitis.Urinary Tract Infection (UTI): E. coli is responsible for approximately 90% of urinary tract infections (UTI) seen in individuals with normal urinary tract anatomy. E.Coli also causes ascending infections. Fecal bacteria colonize the urethra and spread up the urinary tract to the bladder as well as to the kidneys causing pyelonephritis. It may also cause infection of the prostate in males. Because women have a shorter urethra than men, they are 14 times more likely to suffer from an ascending UTI.Neonatal meningitis: A type of strain of E.coli which may be present in mother’s vagina gets colonized in the newborn’s intestines, lead to bacteraemia, which leads to meningitis.

Few precautions that may help to prevent infection:

Wash your hands carefully with soap before you start cooking and before eating.

Cook meat products properly. Do not eat raw meat.

Keep raw meat and poultry separate from other foods.

Don’t drink raw milk.

Keep food refrigerated or frozen.

People with diarrhoea should wash their hands carefully and often, using hot water and soap, and washing for at least 30 seconds.

People who work in day care centres and homes for the elderly should wash their hands often, too.

In restaurants, always order hamburgers that are cooked well.

Vegetables that are eaten raw should be thoroughly washed.

Peeling off outer layer of fruits and vegetables before eating would prevent infection.

First described in 1955 by Robert Zollinger and Edwin Ellison, surgeons at The Ohio State University.

Main features of this syndrome:

Gastric acid hypersecretion

Severe peptic ulceration

Non-beta cell islet tumor of pancreas

In this syndrome increased levels of the hormone Gastrin are produced, causing the stomach to produce excess hydrochloric acid resulting to severe peptic ulceration. The ulcers are formed in the stomach and in the duodenum. The hormone Gastrin is produced by the Non-beta cell tumor in pancreas. At times this tumorcalled Gastrinoma may be located in the duodenum.Gastrin acts on the parietal cells of the stomach and causes the hyperplasia of the parietal cells resulting to increase in the number of the acid secreting cells. It also acts by causing the increase in the output of the acid by the parietal cells. All this results to increase in the production of acid in the stomach and causes the multiple ulcers in the stomach and the duodenum.Gastrinomas may be single of multiple tumors. They may be malignant tumors and spread to Liver, lymphnode in the abdomen and in the small intestine.Nearly 25 percent of patients with gastrinomas have multiple tumors. Such patients have tumors in their pituitary gland and parathyroid glands in addition to tumors of the pancreas.

Symptoms of this condition consist of: Pain in epigastrium, upper abdomen. Diarrhea, Melina (Blood in stool). Vomiting, Weight Loss.This condition is suspected when the symptoms do not resolve with routine treatment.Tests which help in diagnosing this disease are

Upper Gastro intestinal Endoscopy, Measurement of Gastric acid secretion. Normal basal gastric acid secretion is less than 10 mEq/hour, while in Zollinger–Ellison syndrome it is usually more than 15 mEq/hour.

Level of hormone Gastrin, especially in fasting state.

Secretin stimulation test. This measures the level of gastrin after stimulation.

Secretin is a hormone that controls the secretions into the duodenum, and also water homeostasis in the body. It is produced in the S cells of the duodenum in the crypts of Lieberkühn. Its effect is to regulate the pH of the duodenal contents via the control of gastric acid secretion.

Ultrasound, CT Scans and MRI help in diagnosis.

Treatment consists of Proton Pump inhibitors such as omeprazole, rabiprazole, and H2 receptor antagonists such as famotidine and ranitidine.Tumors have to be removed surgically and chemotherapy may be needed.

Hair, is a characteristic of mammalian class of living beings.Hair follicle in the skin is the place where hair grows.

The active living portion of the hair is the follicle. The hair that is visible is the hair shaft. It has no biochemical activity and is non active. The active portion of the hair is found in the follicle.The base or the bulb contains the cells that produce the hair shaft. Other structures of the hair follicle include the oil producing sebaceous gland which lubricates the hair and the erector pili muscles, which are responsible for causing hairs to stand-up.

The strand of hair is made of the medulla, cortex and the cuticle. The cortex, or middle layer of the hair, is the primary source of mechanical strength. The cortex contains melanin which gives colour to the hair. The colour depends on the number, distribution and the type of melanin granules.

The shape of the follicle determines the shape of the cortex, and the shape of the fiber is related to how straight or curly the hair is. Asian hair typically has a round fiber and is quite straight. Oval and irregularly-shaped fibers are generally more wavy or even curly. The cuticle is the outer covering. Its complex structure slides as the hair swells and is covered with a single molecular layer of lipid that makes the hair repel water.The diameter of human hair varies from 17 to 180 µm (0.00067 to 0.0071 in).

All natural hair colors are the result of two types of hair pigment eumelanin and pheomelanin. Both of these pigments are melanin types, produced inside the hair follicle. Generally, if more melanin is present, the color of the hair is darker; if less melanin is present, the hair is lighter. Levels of melanin can vary over time causing a person’s hair color to change, and it is possible to have hair follicles of more than one color.Eumelanin is the dominant pigment in dark-blond, brown, and black hair, and pheomelanin is dominant in red hair.Blond hair is the result of having little pigmentation in the hair strand.

Gray hair occurs when melanin decreases or disappears.

The hair found on the head serves as primary sources of heat insulation and cooling when sweat evaporates from soaked hair, as well as protection from ultra-violet radiation exposure.The hair on the human body does help to keep the internal temperature regulated. When the body is too cold, the arrector pili muscles attached to hair follicles cause the hair to stand up. These hairs then form a heat-trapping layer above the epidermis. This process is called piloerection. The opposite actions occur when the body is too warm. The arrector muscles make the hair lay flat on the skin which allows heat to leave.

Medical Topics

Women who actually follow all of the standard health advice - eat sensibly, don't smoke, get some exercise, keep the weight down, have an occasional drink ,can reduce their chance of heart disease an astonishing 82 percent, according to a study from the landmark Nurses' Health Study, conducted at the Harvard School of Public Health.

Email Subscription

Enter your email address to subscribe to this blog and receive notifications of new posts by email.